Ritscher-Schinzel syndrome

Ritscher-Schinzel syndrome

http://purl.obolibrary.org/obo/DOID_0060565

A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [ http://purl.obolibrary.org/obo/ECO_0007638 url:https://en.wikipedia.org/wiki/3C_syndrome ]

Synonyms: CCC dysplasia craniocerebellocardiac dysplasia

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This is just here as a test because I lose it

Term information

database cross reference

MIM:PS220210
ORDO:7
MESH:C535313
UMLS_CUI:C0796137
SNOMEDCT_US_2023_03_01:718556007

Subsets

DO_rare_slim

has obo namespace

disease_ontology

DOID:0060565

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Subclass of:

syndrome
monogenic disease
disease has basis in some gene